Canonical Allele Identifier: CA394563989

Gene: CREBBP

Linked Data

• COSMIC: COSM5054883
• MyVariant Identifiers: chr16:g.3786787G>C (hg19) ; chr16:g.3736786G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736786G>C , CM000678.2:g.3736786G>C	GRCh38
NC_000016.9:g.3786787G>C , CM000678.1:g.3786787G>C	GRCh37
NC_000016.8:g.3726788G>C	NCBI36
NG_009873.1:g.148335C>G
NG_009873.2:g.148928C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4424C>G MANE Select	ENSP00000262367.5:p.Pro1475Arg
ENST00000262367.9:c.4424C>G	ENSP00000262367.5:p.Pro1475Arg
ENST00000382070.7:c.4310C>G	ENSP00000371502.3:p.Pro1437Arg
ENST00000570939.2:c.3059C>G	ENSP00000461002.2:p.Pro1020Arg
ENST00000571763.5:n.214C>G
ENST00000574740.1:n.245C>G
ENST00000576720.1:n.3247C>G
NM_001079846.1:c.4310C>G	NP_001073315.1:p.Pro1437Arg
NM_004380.2:c.4424C>G	NP_004371.2:p.Pro1475Arg
XM_005255124.3:c.4379C>G	XP_005255181.1:p.Pro1460Arg
XM_005255125.3:c.4007C>G	XP_005255182.1:p.Pro1336Arg
XM_006720848.2:c.4163C>G	XP_006720911.1:p.Pro1388Arg
XM_011522380.1:c.4370C>G	XP_011520682.1:p.Pro1457Arg
XM_011522381.1:c.3671C>G	XP_011520683.1:p.Pro1224Arg
XM_005255124.4:c.4379C>G	XP_005255181.1:p.Pro1460Arg
XM_005255125.4:c.4007C>G	XP_005255182.1:p.Pro1336Arg
XM_006720848.3:c.4163C>G	XP_006720911.1:p.Pro1388Arg
XM_011522381.2:c.3671C>G	XP_011520683.1:p.Pro1224Arg
XM_017022944.1:c.4418C>G	XP_016878433.1:p.Pro1473Arg
NM_004380.3:c.4424C>G MANE Select	NP_004371.2:p.Pro1475Arg